Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandDeafness (D003638)
Parent Node:
expandNails, Malformed (D009264)
Parent Node:
expandTooth Abnormalities (D014071)
..Starting node
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)

       Child Nodes:



 Sister Nodes: 
..expandAckerman syndrome (C538170)
..expandAnodontia (D000848) Child29
..expandAREDYLD Syndrome (C537427)
..expandBlepharo-cheilo-dontic syndrome (C536188)
..expandBook Syndrome (C562993)
..expandCarabelli Anomaly of Maxillary Molar Teeth (C566175)
..expandCleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..expandCODAS syndrome (C536434)
..expandDeafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..expandDens in Dente (D003719) Child1
..expandDental Enamel Hypoplasia (D003744) Child29
..expandDentin Dysplasia (D003805) Child3
..expandDentinogenesis Imperfecta (D003811) Child7
..expandDermoodontodysplasia (C565103)
..expandDiastema, Dental Medial (C565098)
..expandEuhidrotic ectodermal dysplasia (C535763)
..expandFacial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFused Teeth (D005671)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHypoglossia-Hypodactylia (C566308)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandKallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..expandKBG syndrome (C537015)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLarsen syndrome, dominant type (C537873)
..expandNance-Horan syndrome (C538336)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculotrichodysplasia (C564934)
..expandOdontodysplasia (D018126) Child3
..expandOdontomicronychial dysplasia (C537741)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOroacral Syndrome, Verloes-Koulischer Type (C566374)
..expandOtodental Dysplasia (C563482)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandRodrigues blindness (C535865)
..expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..expandTaurodontism (C536946)
..expandTaurodontism, microdontia, and dens invaginatus (C536947)
..expandTeeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..expandTeeth, Odd Shapes Of (C566076)
..expandTemtamy preaxial brachydactyly syndrome (C536958)
..expandTooth Agenesis, Selective, 2 (C566513)
..expandTooth Agenesis, Selective, 3 (C567036)
..expandTooth Agenesis, Selective, 4 (C563634)
..expandTooth Agenesis, Selective, 5 (C565757)
..expandTooth Agenesis, Selective, 6 (C567755)
..expandTooth Agenesis, Selective, X-Linked, 1 (C567060)
..expandTooth, Supernumerary (D014096) Child3
..expandTricho-dento-osseous syndrome 1 (C536550)
..expandTRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..expandWeyers acrofacial dysostosis (C536695)
..expandZazam Sheriff Phillips syndrome (C536723)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3103
Name:Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Definition:
Alternative IDs:
ParentIDs:MESH:D003638|MESH:D009264|MESH:D014071
TreeNumbers:C07.650.800/C567274 |C07.793.700/C567274 |C09.218.458.341.186/C567274 |C10.597.751.418.341.186/C567274 |C16.131.850.800/C567274 |C23.300.820/C567274 |C23.888.592.763.393.341.186/C567274
Synonyms:
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Mouth disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms
Reference: MedGen: C567274
MeSH: C567274
OMIM: 124480;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003577Congenital onset
3 HP:0001798Anonychia
4 HP:0001156Brachydactyly
5 HP:0000698Conical toothHP:0040283
6 HP:0007529Hidrotic ectodermal dysplasia
7 HP:0008404Nail dystrophy
8 HP:0003812Phenotypic variability
9 HP:0001592Selective tooth agenesisHP:0040283
10 HP:0000407Sensorineural hearing impairment
11 HP:0001792Small nail
12 HP:0001770Toe syndactyly
13 HP:0001199Triphalangeal thumbHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001693.3(ATP6V1B2):c.1516C>T (p.Arg506Ter)526ATP6V1B2Pathogenic794729667RCV000185602; NMedGen:C2675730,OMIM:124480,ORPHA:7949982007789320077893NM_001693.3:c.1516C>TNP_001684.2:p.Arg506TerNC_000008.10:g.20077893C>TOMIM Allelic Variant:606939.0001C2675730 124480 Deafness, congenital, and onychodystrophy, autosomal dominant